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Diagnostics (Basel, Switzerland) Aug 2023Eccrine poroma (EP) is a relatively rare benign adnexal neoplasm that usually affects elderly patients. Its pathogenesis is still under investigation, but recent gene... (Review)
Review
Eccrine poroma (EP) is a relatively rare benign adnexal neoplasm that usually affects elderly patients. Its pathogenesis is still under investigation, but recent gene studies have revealed gene fusions as key incidences resulting in oncogenetic pathways. It often presents as a solitary, firm papule, mostly asymptomatic, located on the soles or palms. Due to its clinical and dermoscopic variability, it is characterized as the great imitator. We performed a literature review, aiming to summarize current data on the pathogenetic mechanisms, new dermoscopic features, and novel diagnostic tools that may aid in early diagnosis and proper management of this rare adnexal tumor. Furthermore, we reviewed the possible pathogenetic associations between EP and its malignant counterpart, namely eccrine porocarcinoma. This systematic approach may aid in understanding the pathogenetic mechanisms and how to use novel histopathologic markers and imaging methods to overcome the diagnostic dilemma of this rare tumor.
PubMed: 37627947
DOI: 10.3390/diagnostics13162689 -
Histopathology Jan 2024Poroma is a benign sweat gland tumour showing morphological features recapitulating the superficial portion of the eccrine sweat coil. A subset of poromas may transform... (Review)
Review
Poroma is a benign sweat gland tumour showing morphological features recapitulating the superficial portion of the eccrine sweat coil. A subset of poromas may transform into porocarcinoma, its malignant counterpart. Poroma and porocarcinoma are characterised by recurrent gene fusions involving YAP1, a transcriptional co-activator, which is controlled by the Hippo signalling pathway. The fusion genes frequently involve MAML2 and NUTM1, which are also rearranged in other cutaneous and extracutaneous neoplasms. We aimed to review the clinical, morphological and molecular features of this category of adnexal neoplasms with a special focus upon emerging differential diagnoses, and discuss how their systematic molecular characterisation may contribute to a standardisation of diagnosis, more accurate classification and, ultimately, refinement of their prognosis and therapeutic modalities.
Topics: Humans; Poroma; Eccrine Porocarcinoma; Skin Neoplasms; Sweat Gland Neoplasms; Skin; Transcription Factors
PubMed: 37609771
DOI: 10.1111/his.15023 -
International Journal of Dermatology Sep 2014Poroma is a benign adnexal neoplasm of the terminal sweat gland duct. Although poromas have traditionally been thought to originate from the eccrine sweat gland, there... (Review)
Review
Poroma is a benign adnexal neoplasm of the terminal sweat gland duct. Although poromas have traditionally been thought to originate from the eccrine sweat gland, there have been cases of apocrine etiology as well. Eccrine and apocrine poromas typically present as erythematous or flesh-colored nodules on the palms and soles. As these features overlap with a multitude of differential diagnoses, it is imperative to have a firm understanding of the characteristics that make the diagnosis of poroma. In addition, the malignant counterpart to the poroma, the eccrine porocarcinoma, manifests in a similar nonspecific fashion. Case studies and literature reviews have contributed immensely to our present knowledge of poroma and porocarcinoma. Given the rarity of these neoplasms, however, there remains a relative paucity of information on atypical presentations and rates of malignant transformation. In this article, the epidemiology, clinical presentation, diagnosis, and management of poroma and porocarcinoma will be reviewed. This systematic approach may serve as a guide in navigating the diagnostic dilemma of these rare cutaneous lesions.
Topics: Biomarkers, Tumor; Cyclin-Dependent Kinase Inhibitor p16; Dermoscopy; Diagnosis, Differential; Humans; Neoplasm Proteins; Poroma; Risk Factors; Sweat Gland Neoplasms; Tumor Suppressor Protein p53
PubMed: 24697501
DOI: 10.1111/ijd.12448 -
Orbit (Amsterdam, Netherlands) Jul 2021Clinical and histopathologic case of an eyelid eccrine poroma, a benign adnexal neoplasm rarely found on the periorbital skin.
Clinical and histopathologic case of an eyelid eccrine poroma, a benign adnexal neoplasm rarely found on the periorbital skin.
PubMed: 34261402
DOI: 10.1080/01676830.2021.1939732 -
Histopathology Aug 2023Poroma is a benign adnexal neoplasm with differentiation towards the upper portion of the sweat gland apparatus. In 2019, Sekine et al. demonstrated recurrent...
AIMS
Poroma is a benign adnexal neoplasm with differentiation towards the upper portion of the sweat gland apparatus. In 2019, Sekine et al. demonstrated recurrent YAP1::MAML2 and YAP1::NUTM1 fusion in poroma and porocarcinoma. Follicular, sebaceous and/or apocrine differentiation has been reported in rare cases of poroma and whether these tumours constitute a variant of poroma or represent a distinctive tumour is a matter to debate. Herein we describe the clinical, immunophenotypic, and molecular features of 13 cases of poroma with folliculo-sebaceous differentiation.
METHODS AND RESULTS
Most of the tumours were located on the head and neck region (n = 7), and on the thigh (n = 3). All presented were adults with a slight male predilection. The median tumour size was 10 mm (range: 4-25). Microscopically, lesions displayed features of poroma with nodules of monotonous basophilic cells associated with a second population of larger eosinophilic cells. In all cases, ducts and scattered sebocytes were identified. Infundibular cysts were present in 10 cases. In two cases high mitotic activity was noted, and in three cases cytologic atypia and areas of necrosis were identified. Whole transcriptome RNA sequencing demonstrated in-frame fusion transcripts involving RNF13::PAK2 (n = 4), EPHB3::PAK2 (n = 2), DLG1::PAK2 (n = 2), LRIG1::PAK2 (n = 1), ATP1B3::PAK2 (n = 1), TM9SF4::PAK2 (n = 1), and CTNNA1::PAK2 (n = 1). Moreover, fluorescence in situ hybridisation (FISH) analysis revealed PAK2 rearrangement in an additional case. No YAP1::MAML2 or YAP1::NUTM1 fusion was detected.
CONCLUSION
Recurrent fusions involving the PAK2 gene in all analysed poroma with folliculo-sebaceous differentiation in this study confirms that this neoplasm represents a separate tumour entity distinct from YAP1::MAML2 or YAP1::NUTM1 rearranged poromas.
Topics: Male; Humans; Poroma; Transcription Factors; Sweat Gland Neoplasms; Cell Differentiation; p21-Activated Kinases; Sodium-Potassium-Exchanging ATPase; Membrane Proteins
PubMed: 37199682
DOI: 10.1111/his.14940 -
Cancers Oct 2022Eccrine porocarcinoma, also known as porocarcinoma (PC) and malignant eccrine poroma, is very rare and is known to arise from the cutaneous intraepidermal ducts of the... (Review)
Review
Eccrine porocarcinoma, also known as porocarcinoma (PC) and malignant eccrine poroma, is very rare and is known to arise from the cutaneous intraepidermal ducts of the sweat glands. Its etiology is not well understood; however, some studies suggest that PC tumors originate from benign eccrine poroma. Recently, several gene alterations have been reported in PC that can reveal mechanisms of the oncogenic process. Since the clinical and histopathological findings of PC are variable, PC is difficult to diagnose precisely, especially when the histology resembles that of cutaneous squamous cell carcinoma or poroma. Immunohistochemical staining with carcinoembryonic antigen and epithelial membrane antigen may help to distinguish PC from other tumors. The standard treatment for local PC is wide local excision. The prognosis of patients with metastatic PC is poor, with mortality rates of approximately 60-70%. The efficacy of radiation and chemotherapy for metastatic PC is limited; however, immunotherapy with pembrolizumab, a programmed cell death protein 1 inhibitor, could be a promising treatment. This review focuses on the history, pathogenesis, pathological features, diagnosis, and treatment of eccrine porocarcinoma.
PubMed: 36358649
DOI: 10.3390/cancers14215232 -
Indian Journal of Ophthalmology Nov 2020
Topics: Eyelids; Humans; Poroma; Sweat Gland Neoplasms
PubMed: 33120667
DOI: 10.4103/ijo.IJO_666_20 -
The American Journal of Dermatopathology May 2022A 76-year-old female patient presented with a peculiar new exophytic-appearing, flesh-colored skin lesion on her left hallux. Owing to its atypical appearance, the...
A 76-year-old female patient presented with a peculiar new exophytic-appearing, flesh-colored skin lesion on her left hallux. Owing to its atypical appearance, the neoplasm was biopsied. Histologic sections demonstrated numerous thickened, anastomosing cord-like structures composed of bland appearing adnexal keratinocytes attached to the epidermis and extending into the superficial dermis. Nearby areas exhibited papillomatosis, epidermal acanthosis, dense hyperparakeratosis, hypergranulosis, and superficial koilocytes, findings consistent with a verruca plantaris. A p16 stain was positive in many of the superficial epidermal keratinocytes. Human papillomavirus typing by in situ hybridization for the most common low-risk and high-risk types was also performed and was negative for these. We herein present an unusual case of a skin lesion which combines features of a poroma with a verruca plantaris. We further review what is known of the relationship between human papillomavirus and poroid neoplasms.
Topics: Aged; Female; Foot Diseases; Humans; In Situ Hybridization; Papillomaviridae; Poroma; Sweat Gland Neoplasms; Warts
PubMed: 35120031
DOI: 10.1097/DAD.0000000000002123 -
The American Journal of Case Reports Dec 2023BACKGROUND Eyelid tumors belong to a diverse group of neoplasms ranging from benign lesions to malignant tumors. Poromas are common, benign, mostly unpigmented tumors of... (Review)
Review
BACKGROUND Eyelid tumors belong to a diverse group of neoplasms ranging from benign lesions to malignant tumors. Poromas are common, benign, mostly unpigmented tumors of the epidermal sweat duct unit, that usually grow slowly and occur in elderly people on the palms and soles. In most poroma cases some gene fusions were detected, which were caused by chromosomal aberrations. CASE REPORT We report the atypical case of a 30-year-old female patient suffering for more than 15 years from a solitary, polypoid, pigmented formation with a focal tuberous surface on the left lower eyelid. The lesion was not growing during the first years, but in the last 6 months before diagnosis its size more than doubled, finally reaching 12×14 mm. It was removed and histopathological analysis confirmed the diagnosis of a rare tumor - a poroma. There were no complications during healing and no recurrence was reported. CONCLUSIONS There have so far been only 9 reports of eyelid poromas, and the presented case significantly differed from the previous ones, as it appeared at an early age and showed rapid growth during a short time due to the war-related acute psychological stress. Moreover, it had unusual pigmentation and unpleasant smell. Reporting such untypical cases is clinically important because it is crucial to be aware of the diversity of eccrine poroma manifestation to distinguish it from malignant lesions.
Topics: Adult; Female; Humans; Diagnosis, Differential; Eyelids; Pigmentation Disorders; Poroma; Sweat Gland Neoplasms
PubMed: 38115572
DOI: 10.12659/AJCR.941975